Cutaneous pseudomyogenic (epithelioid sarcoma‐like) haemangioendothelioma  FOSB immunohistochemistry demonstrating the <i>SERPINE1‐FOSB</i> fusion gene

Alegría-Landa, Victoria; Santonja, Carlos; Jo‐Velasco, Margarita; Kutzner, Heinz; Requena, Luis

doi:10.1111/jdv.14417

Cited by 6 publications

(5 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Recently, the specific balanced translocation t (7; 19) (q22; q13) resulting in the fusion of the SERPINE1 and FOSB genes was reported. This SERPINE1- FOSB gene fusion might lead to strong expression of FOSB , and identification of this genetic derangement is useful for diagnostic purposes [14, 15]. In our case, the tumor cells expressed CD31, AE1/AE3, FLi-1, and ERG and were negative for CD34.…”

Section: Discussionmentioning

confidence: 70%

A rare case of pseudomyogenic hemangioendothelioma (PHE)/epithelioid sarcoma-like hemangioendothelioma (ES-H) of the breast first misdiagnosed as metaplastic carcinoma by FNAB and review of the literature

Lin

Zhang

et al. 2019

Diagn Pathol

View full text Add to dashboard Cite

Aims Pseudomyogenic hemangioendothelioma (PHE)/epithelioid sarcoma-like hemangioendothelioma (ES-H) is a rare vascular tumor of intermediate malignancy that commonly occurs in soft tissue of distal extremities of young adults. PHE typically has a multifocal presentation and can involve several tissue planes, including the dermis, subcutis, muscle and bone. Methods and results We present here a unique case of PHE/ESH that arose in the breast as well as a review of the published literature. The initial biopsy was interpreted as a metaplastic carcinoma. However, complete resection largely revealed plump epithelioid cells, and a more spindled cell component was also noted. The cells displayed abundant eosinophilic cytoplasm and central vesicular nuclei arranged in loose fascicles, with a mild, mixed acute and chronic inflammatory infiltrate. Overall, linear membranous staining of CD31 and lack of CD34 expression were highly suggestive of PHE. At the same time, FOSB immunoreactivity was observed, which supported PHE/ESH instead of metaplastic carcinoma. The patient has not shown recurrence in the half year follow up after total mastectomy. Conclusion To our knowledge, this is the first report of breast involvement in this neoplasm. Recognition of its histopathological features and immunohistochemical reactivity will prevent misdiagnosis of breast lesions.

show abstract

Section: Discussionmentioning

confidence: 70%

A rare case of pseudomyogenic hemangioendothelioma (PHE)/epithelioid sarcoma-like hemangioendothelioma (ES-H) of the breast first misdiagnosed as metaplastic carcinoma by FNAB and review of the literature

Lin

Zhang

et al. 2019

Diagn Pathol

View full text Add to dashboard Cite

show abstract

“…In PHE, chromosomal rearrangements leading to the fusion of FOSB (the whole or partial coding region) with other genes, such as SERPINE1, ACTB, WWTR1, and CLTC, have been identified. 2,[4][5][6][7][8][9][10][11] The common feature of these cases is that the fusion introduces a strong promoter, resulting in deregulated overexpression of intact, partial, or chimeric FOSB. However, the pathogenic mechanism by which these genetic aberrations lead to PHE, which is of value for the development of effective targeted treatments, remains largely unknown.…”

Section: Discussionmentioning

confidence: 99%

“…2,3 Genetically, chromosomal rearrangements that result in the fusion of all or part of the FOSB coding region with the promoters of other genes, such as SERPINE1, ACTB, WWTR1, and CLTC, have been frequently identified in PHE, suggesting that activation of FOSB plays an important role in the pathogenesis. 2,[4][5][6][7][8][9][10][11] In terms of PHE treatment, the multifocal nature and high risk of relapse limit the efficacy of surgical excision. 3,12 Conventional chemotherapy has been administered in some cases, with variable efficacy.…”

mentioning

confidence: 99%

A novel SERPINE1‐FOSB fusion gene in pseudomyogenic hemangioendothelioma results in activation of intact FOSB and the PI3K‐AKT‐mTOR signaling pathway and responsiveness to sirolimus

Wang

Zhou

Yue

et al. 2021

The Journal of Dermatology

View full text Add to dashboard Cite

Pseudomyogenic hemangioendothelioma (PHE) is an extremely rare disease that was included in the 2013 WHO classification of soft tissue and bone tumors. 1 This disease occurs mainly in the young population and affects more men than women. PHE are typically multicentric, locally aggressive, have low metastatic potential, and affect multiple tissue planes. 1,2 Histologically, PHE is characterized by loose fascicles of spindled and epithelioid cells, abundant eosinophilic cytoplasm, and vesicular nuclei with distinct nucleoli. In some cases, neutrophilic inflammatory infiltrates have been noted. 1,2 Immunohistochemically, tumor cells are

show abstract

“…This specific genetic feature has not been observed in other neoplasms. Therefore, de-tection of nuclear FOSB with a specific antibody can be used for a more accurate differential diagnosis 9,10 . The diagnosis is made based on the histopathological and immunohistochemical staining.…”

Section: Discussionmentioning

confidence: 99%

“…Staining for EMA is usually weak and smooth muscle actin is positive in one-third of the patients 4,5 . S100 protein, desmin, pancytokeratin MNF-116, podoplanin, Prox-1, and Lyve-1 are typically negative 5,9 . Differential diagnoses include epithelioid sarcoma, epithelioid hemangioendothelioma (EHE), dermatofibrosarcoma protuberans (DFSP), Kaposi sarcoma and rhabdomyosarcoma 5,11,12 .…”

Section: Discussionmentioning

confidence: 99%

A Case of Pseudomyogenic Hemangioendothelioma of the Lower Extremity

et al. 2020

View full text Add to dashboard Cite

Pseudomyogenic hemangioendothelioma (PMH) is a rare vascular tumor and was recently recognized as a distinct entity. It has a predilection for young male adults and it frequently occurs in distal extremities. Although it is known to follow an indolent course, multi-focal presentation and local recurrence are common. PMH should be differentiated from epithelioid sarcoma, epithelioid hemangioendothelioma, dermatofibrosarcoma protuberans, and rhabdomyosarcoma. Its characteristic immunohistochemical staining pattern and recurrent translocation t(7:19)(q22:q13) are the basis for its diagnosis. Surgical excision is the mainstay treatment, although chemotherapy can be considered in non-operable patients. We present a rare case of a 40-year-old Korean male patient diagnosed with PMH through an excisional biopsy to facilitate the recognition PMH in the clinical practice. (Ann Dermatol 32(5) 426∼429, 2020

show abstract

Cutaneous pseudomyogenic (epithelioid sarcoma‐like) haemangioendothelioma FOSB immunohistochemistry demonstrating the SERPINE1‐FOSB fusion gene

Cited by 6 publications

References 6 publications

A rare case of pseudomyogenic hemangioendothelioma (PHE)/epithelioid sarcoma-like hemangioendothelioma (ES-H) of the breast first misdiagnosed as metaplastic carcinoma by FNAB and review of the literature

A rare case of pseudomyogenic hemangioendothelioma (PHE)/epithelioid sarcoma-like hemangioendothelioma (ES-H) of the breast first misdiagnosed as metaplastic carcinoma by FNAB and review of the literature

A novel SERPINE1‐FOSB fusion gene in pseudomyogenic hemangioendothelioma results in activation of intact FOSB and the PI3K‐AKT‐mTOR signaling pathway and responsiveness to sirolimus

A Case of Pseudomyogenic Hemangioendothelioma of the Lower Extremity

Contact Info

Product

Resources

About